Craniofacial Pathologies



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The Craniofacial Pathologies biobank is a research study collecting and storing reamining surgical specimens from the cranium and face from diagnosed patients at CHOP with a congenital craniofacial anomaly. The main purpose of this longitudinal study is to help researchers discover the causes of craniofacial pathologies that may lead to new treatments.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at lopezlm [at] or 267-379-6846.

Eligibility & Criteria

IRB #:
Official Title:
Shared Genetics Underlying Pediatric Congenital Craniofacial Pathologies
Study Phase:
Not Applicable
Eligible Age Range:
0 - 99 Years
Study Categories:

Visit Criteria

Research subjects meeting all inclusion criteria will be screened and approached for participation in the study prior to surgery scheduling as part of the subject's clinical standard of care at initial diagnosis. There will be cases in which presurgical consent is not feasible and in those cases, patients will still be approached after surgery. At the time of specimen collection, clinical and laboratory data such as disease characterization, treatment and outcome will be collected. If parental consent is obtained during the main enrollment process, saliva samples will be obtained prospectively when available.